Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
L M Mulligan;J B Kwok;C S Healey;M J Elsdon.
Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
Katherine R. Smith;Katherine R. Smith;John Damiano;Silvana Franceschetti;Stirling Carpenter.
American Journal of Human Genetics (2012)
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Susanna Ranta;Yonghui Zhang;Barbara Ross;Liina Lonka.
Nature Genetics (1999)
The neuronal ceroid lipofuscinoses : batten disease
Sara E. Mole;Matti Haltia.
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Fifth Edition) (2015)
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Sara E. Mole;Ruth E. Williams;Hans H. Goebel.
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Maria Kousi;Anna-Elina Lehesjoki;Sara E. Mole.
Human Mutation (2012)
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Lenka Nosková;Viktor Stránecký;Hana Hartmannová;Anna Přistoupilová.
American Journal of Human Genetics (2011)
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
Jose Bras;Alain Verloes;Susanne A. Schneider;Sara E. Mole.
Human Molecular Genetics (2012)
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Sara E. Mole;Susan L. Cotman.
Biochimica et Biophysica Acta (2015)
Spectrum of Mutations in the Batten Disease Gene, CLN3
Patricia B. Munroe;Hannah M. Mitchison;Angela M. O'Rawe;John W. Anderson.
American Journal of Human Genetics (1997)
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